Nibrin is a protein associated with the repair of double strand breaks (DSBs) which pose serious damage to a genome. It is a 754 amino acid protein identified as a member of the NBS1/hMre11/RAD50(N/M/R, more commonly referred to as MRN) double strand DNA break repair complex. [8]

2024年12月25日 · NBN (Nibrin) is a Protein Coding gene. Diseases associated with NBN include Nijmegen Breakage Syndrome and Aplastic Anemia. Among its related pathways are Homologous DNA Pairing and Strand Exchange and HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA).

2021年11月30日 · Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins.

1998年5月1日 · We describe the positional cloning of a gene encoding a novel protein, nibrin. It contains two modules found in cell cycle checkpoint proteins, a forkhead-associated domain adjacent to a breast cancer carboxy-terminal domain.

The NBN gene provides instructions for making a protein called nibrin. This protein is involved in several critical cellular functions, including the repair of damaged DNA. Nibrin interacts with two other proteins, produced from the MRE11A and RAD50 genes, as part of a larger protein complex. Nibrin regulates the activity of this complex by ...

NBN gene product nibrin plays an important role at different levels in the B-cell system and in the pathology of the Nijmegen breakage syndrome. Results suggest an important role of NBN 1197A>G and XRCC3-316A>G polymorphisms in the development of second neoplasm in patients treated for childhood acute lymphoblastic leukemia (ALL).

nibrin（也称为nbn或nbs1）是mre11 / rad50 / nbn复合物的组成部分，它参与dna双链断裂感测和修复的早期步骤。 NBN基因内的突变是奈梅亨断裂综合症（NBS）的原因。

尼布林： 该基因的突变与奈梅亨断裂综合征有关，奈梅亨断裂综合征是一种常染色体隐性遗传的染色体不稳定综合征，其特征是小头畸形、生长迟缓、免疫缺陷和癌症易感性。编码的蛋白质是 MRE11/RAD50 双链断裂修复复合物的成员，该复合物由 5 种蛋白质组成。该基因产物被认为参与 DNA 双链断裂 ...

Predicted to enable DNA-binding transcription factor binding activity; damaged DNA binding activity; and protein N-terminus binding activity. Involved in several processes, including negative regulation of neuron differentiation; negative regulation of viral entry into host cell; and regulation of fibroblast proliferation.

also called nibrin) is a component of the MRE11–RAD50–NBS1 (MRN) complex that is thought to play a part in detecting DNA breaks. You might find these chapters and articles relevant to this topic.